Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023757_6023758delinsTG , CM000674.2:g.6023757_6023758delinsTG | GRCh38 |
| NC_000012.11:g.6132923_6132924delinsTG , CM000674.1:g.6132923_6132924delinsTG | GRCh37 |
| NC_000012.10:g.6003184_6003185delinsTG | NCBI36 |
| NG_009072.1:g.105913_105914delinsCA | |
| NG_009072.2:g.105913_105914delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3252_3253delinsCA MANE Select | ENSP00000261405.5:p.Cys1084= | |
| ENST00000261405.9:c.3252_3253delinsCA | ENSP00000261405.5:p.Cys1084= | |
| ENST00000538635.5:n.421-29824_421-29823delinsCA | ||
| NM_000552.3:c.3252_3253delinsCA | NP_000543.2:p.Cys1084= | |
| NM_000552.4:c.3252_3253delinsCA | NP_000543.2:p.Cys1084= | |
| NM_000552.5:c.3252_3253delinsCA MANE Select | NP_000543.3:p.Cys1084= |